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Gene : G6PC Homo sapiens

Name  ? glucose-6-phosphatase catalytic subunit Cytological Location  17q21.31
Brief Description  glucose-6-phosphatase catalytic subunit
Description  Glucose-6-phosphatase (G6Pase) is a multi-subunit integral membrane protein of the endoplasmic reticulum that is composed of a catalytic subunit and transporters for G6P, inorganic phosphate, and glucose. This gene (G6PC) is one of the three glucose-6-phosphatase catalytic-subunit-encoding genes in human: G6PC, G6PC2 and G6PC3. Glucose-6-phosphatase catalyzes the hydrolysis of D-glucose 6-phosphate to D-glucose and orthophosphate and is a key enzyme in glucose homeostasis, functioning in gluconeogenesis and glycogenolysis. Mutations in this gene cause glycogen storage disease type I (GSD1). This disease, also known as von Gierke disease, is a metabolic disorder characterized by severe hypoglycemia associated with the accumulation of glycogen and fat in the liver and kidneys.[provided by RefSeq, Feb 2011]
  • synonyms:
  • G6PC,
  • G6PT,
  • U01120,
  • GSD1,
  • glycogen storage disease type I, von Gierke disease,
  • GSD1a,
  • G6PC1,
  • G6Pase,
  • G6PC1,
  • HGNC:4056,
  • GSD1a,
  • glucose-6-phosphatase, catalytic (glycogen storage disease type I, von Gierke disease),
  • G6PT,
  • uc002icb.3,
  • OTTHUMG00000180657,
  • NM_000151
  • identifiers:
  • 2538,
  • ENSG00000131482,
  • G6PC

Genome feature

Region: gene ? Length: 13640  
Location: 17:42900799-42914438 Cyto location: 17q21.31


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Proteins

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SNPs

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Disease

1 Diseases

Gene (Hum OR Rat) --> Mouse Allele (Phenotype)

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Gene -> HPO annotation (Human Phenotype Ontology)

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Expression

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Other

59 SN Ps

5 Cross References

19 Data Sets

6 Homologues

0 Located Features

97 Rna Seq Results